ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.981C>T (p.Leu327=)

dbSNP: rs747677218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542206 SCV001073620 likely benign Charcot-Marie-Tooth disease type 2 2022-09-03 criteria provided, single submitter clinical testing

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